Amorphous globosus

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Amorphus globosus 2

Amorphous globosus is a rare and complex congenital anomaly that occurs during pregnancy. This condition is characterized by the development of a fetus without a defined body shape, lacking recognizable human features such as limbs, a head, and internal organs in their usual configuration. The term "amorphous globosus" literally translates to "shapeless mass," accurately describing the physical appearance of the affected fetus. This condition is a type of acardiac twin, which itself is a subset of twin reversed arterial perfusion (TRAP) sequence, a rare complication of monochorionic twin pregnancies.

Etiology

The exact cause of amorphous globosus is not fully understood, but it is closely associated with abnormalities in the placental circulation. In a TRAP sequence, the affected fetus (acardiac twin) receives blood from the healthy twin (pump twin) through abnormal arterio-arterial and veno-venous connections in the placenta. This aberrant blood flow leads to the development of a fetus without a properly formed heart (acardia) and other severe morphological abnormalities, resulting in the amorphous globosus phenotype.

Diagnosis

Diagnosis of amorphous globosus is typically made through ultrasound during pregnancy. Sonographic features include the absence of a recognizable body structure, with the presence of soft tissue mass that lacks organized development into specific body parts. The diagnosis is often confirmed by the absence of cardiac activity in the mass, alongside the identification of a normal twin sharing the same placenta, if present.

Management

Management of pregnancies complicated by amorphous globosus involves careful monitoring and consideration of the risks to the healthy twin, if applicable. In some cases, intervention may be recommended to protect the health of the pump twin, including procedures like selective cord occlusion to prevent the flow of blood to the acardiac mass. The decision regarding management must be tailored to the specific circumstances of each case, often involving a multidisciplinary team of specialists in maternal-fetal medicine, pediatrics, and neonatology.

Prognosis

The prognosis for an amorphous globosus fetus is poor, as it is not compatible with life. However, with appropriate management, the prognosis for the healthy twin in a TRAP sequence can be cautiously optimistic. The key to improving outcomes lies in early detection and careful monitoring of the pregnancy, allowing for timely interventions when necessary.

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Contributors: Prab R. Tumpati, MD